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A new deletion causing alpha thalassemia has been characterised in a Greek family. Detailed mapping of the alpha gene complex shows that the deletion extends for 5.2 kb and removes the whole of the alpha 2 gene and the 5' end of the alpha 1 gene. The affected chromosome, therefore produces no normal alpha chains and results in a phenotype of alpha thalassemia 1.

Type

Journal article

Journal

Nucleic Acids Res

Publication Date

1980

Volume

8

Pages

4889 - 4898

Keywords

Chromosome Deletion DNA Restriction Enzymes/metabolism Genes, Structural Globins/*genetics Human Pedigree Thalassemia/*genetics